Thyroid nodules in xeroderma pigmentosum patients: a feature of premature aging

Purpose Xeroderma pigmentosum (XP) is an autosomal recessive disease with defective DNA repair, a markedly increased risk of skin cancer, and premature aging. Reports from North Africa have described thyroid nodules in XP patients, but thyroid nodule prevalence has never been determined in XP patien...

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Published inJournal of endocrinological investigation Vol. 44; no. 7; pp. 1475 - 1482
Main Authors Kouatcheu, S. D., Marko, J., Tamura, D., Khan, S. G., Lee, C. R., DiGiovanna, J. J., Kraemer, K. H.
Format Journal Article
LanguageEnglish
Published Cham Springer International Publishing 01.07.2021
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Abstract Purpose Xeroderma pigmentosum (XP) is an autosomal recessive disease with defective DNA repair, a markedly increased risk of skin cancer, and premature aging. Reports from North Africa have described thyroid nodules in XP patients, but thyroid nodule prevalence has never been determined in XP patients enrolled in our natural history study at the National Institutes of Health (NIH). Methods We performed thyroid ultrasound examinations on all 29 XP patients examined from 2011 to 2019 and assessed nodule malignancy using the Thyroid Imaging Reporting and Data System. Thyroid nodule prevalence was also obtained from comparison cohorts. DNA sequencing was performed on thyroid tissue from XP patients who had surgery for thyroid cancer. Results Thyroid nodules were identified in 18/29 XP patients (62%). The median age of patients with thyroid nodules in our XP cohort (20 years) was younger than that of three comparison groups: 36 years (California study—208 subjects), 48 years (Korean study—24,757 subjects), and 52 years (NIH—682 research subjects). Multiple (2–4) thyroid nodules were found in 12/18 (67%) of the patients with nodules. Autopsy examination revealed follicular adenomas in 4/8 (50%) additional XP patients. DNA sequencing revealed rare mutations in two other XP patients with papillary thyroid cancer. Conclusions XP patients have an increased incidence of thyroid nodules at an early age in comparison to the general population. These finding confirm another premature aging feature of XP.
AbstractList PURPOSEXeroderma pigmentosum (XP) is an autosomal recessive disease with defective DNA repair, a markedly increased risk of skin cancer, and premature aging. Reports from North Africa have described thyroid nodules in XP patients, but thyroid nodule prevalence has never been determined in XP patients enrolled in our natural history study at the National Institutes of Health (NIH). METHODSWe performed thyroid ultrasound examinations on all 29 XP patients examined from 2011 to 2019 and assessed nodule malignancy using the Thyroid Imaging Reporting and Data System. Thyroid nodule prevalence was also obtained from comparison cohorts. DNA sequencing was performed on thyroid tissue from XP patients who had surgery for thyroid cancer. RESULTSThyroid nodules were identified in 18/29 XP patients (62%). The median age of patients with thyroid nodules in our XP cohort (20 years) was younger than that of three comparison groups: 36 years (California study-208 subjects), 48 years (Korean study-24,757 subjects), and 52 years (NIH-682 research subjects). Multiple (2-4) thyroid nodules were found in 12/18 (67%) of the patients with nodules. Autopsy examination revealed follicular adenomas in 4/8 (50%) additional XP patients. DNA sequencing revealed rare mutations in two other XP patients with papillary thyroid cancer. CONCLUSIONSXP patients have an increased incidence of thyroid nodules at an early age in comparison to the general population. These finding confirm another premature aging feature of XP.
Purpose Xeroderma pigmentosum (XP) is an autosomal recessive disease with defective DNA repair, a markedly increased risk of skin cancer, and premature aging. Reports from North Africa have described thyroid nodules in XP patients, but thyroid nodule prevalence has never been determined in XP patients enrolled in our natural history study at the National Institutes of Health (NIH). Methods We performed thyroid ultrasound examinations on all 29 XP patients examined from 2011 to 2019 and assessed nodule malignancy using the Thyroid Imaging Reporting and Data System. Thyroid nodule prevalence was also obtained from comparison cohorts. DNA sequencing was performed on thyroid tissue from XP patients who had surgery for thyroid cancer. Results Thyroid nodules were identified in 18/29 XP patients (62%). The median age of patients with thyroid nodules in our XP cohort (20 years) was younger than that of three comparison groups: 36 years (California study—208 subjects), 48 years (Korean study—24,757 subjects), and 52 years (NIH—682 research subjects). Multiple (2–4) thyroid nodules were found in 12/18 (67%) of the patients with nodules. Autopsy examination revealed follicular adenomas in 4/8 (50%) additional XP patients. DNA sequencing revealed rare mutations in two other XP patients with papillary thyroid cancer. Conclusions XP patients have an increased incidence of thyroid nodules at an early age in comparison to the general population. These finding confirm another premature aging feature of XP.
Xeroderma pigmentosum (XP) is an autosomal recessive disease with defective DNA repair, a markedly increased risk of skin cancer, and premature aging. Reports from North Africa have described thyroid nodules in XP patients, but thyroid nodule prevalence has never been determined in XP patients enrolled in our natural history study at the National Institutes of Health (NIH). We performed thyroid ultrasound examinations on all 29 XP patients examined from 2011 to 2019 and assessed nodule malignancy using the Thyroid Imaging Reporting and Data System. Thyroid nodule prevalence was also obtained from comparison cohorts. DNA sequencing was performed on thyroid tissue from XP patients who had surgery for thyroid cancer. Thyroid nodules were identified in 18/29 XP patients (62%). The median age of patients with thyroid nodules in our XP cohort (20 years) was younger than that of three comparison groups: 36 years (California study-208 subjects), 48 years (Korean study-24,757 subjects), and 52 years (NIH-682 research subjects). Multiple (2-4) thyroid nodules were found in 12/18 (67%) of the patients with nodules. Autopsy examination revealed follicular adenomas in 4/8 (50%) additional XP patients. DNA sequencing revealed rare mutations in two other XP patients with papillary thyroid cancer. XP patients have an increased incidence of thyroid nodules at an early age in comparison to the general population. These finding confirm another premature aging feature of XP.
Author DiGiovanna, J. J.
Tamura, D.
Kouatcheu, S. D.
Khan, S. G.
Lee, C. R.
Kraemer, K. H.
Marko, J.
AuthorAffiliation 3 Clinical Center, NIH, Bethesda, MD
2 NIH Academy Enrichment Program, Bethesda, MD
4 Laboratory of Pathology, CCR, NCI, NIH, Bethesda, MD
1 Laboratory of Cancer Biology and Genetics, Center for Cancer Research (CCR), National Cancer Institute (NCI), National Institutes of Health (NIH), Bethesda, MD
AuthorAffiliation_xml – name: 4 Laboratory of Pathology, CCR, NCI, NIH, Bethesda, MD
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Issue 7
Keywords Xeroderma pigmentosum
Thyroid ultrasound
Thyroid cancer
DNA repair
Thyroid nodules
DNA sequencing
Language English
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Authors’ contributions: Concept, Investigation, Writing review and editing: All authors; Software, Visualization, and Writing first draft: SDK, KHK; Resources: JM, DT, CRL, JJD, KHK; Supervision: JM, CRL, KHK; Validation: DT, KHK; Administration: KHK.
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Snippet Purpose Xeroderma pigmentosum (XP) is an autosomal recessive disease with defective DNA repair, a markedly increased risk of skin cancer, and premature aging....
Xeroderma pigmentosum (XP) is an autosomal recessive disease with defective DNA repair, a markedly increased risk of skin cancer, and premature aging. Reports...
PurposeXeroderma pigmentosum (XP) is an autosomal recessive disease with defective DNA repair, a markedly increased risk of skin cancer, and premature aging....
PURPOSEXeroderma pigmentosum (XP) is an autosomal recessive disease with defective DNA repair, a markedly increased risk of skin cancer, and premature aging....
SourceID pubmedcentral
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SourceType Open Access Repository
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StartPage 1475
SubjectTerms Aging
Autopsy
Deoxyribonucleic acid
DNA
DNA repair
DNA sequencing
Endocrinology
Internal Medicine
Malignancy
Medicine
Medicine & Public Health
Metabolic Diseases
Nodules
Original Article
Papillary thyroid cancer
Skin cancer
Surgery
Thyroid cancer
Ultrasound
Xeroderma pigmentosum
Title Thyroid nodules in xeroderma pigmentosum patients: a feature of premature aging
URI https://link.springer.com/article/10.1007/s40618-020-01451-x
https://www.ncbi.nlm.nih.gov/pubmed/33155181
https://www.proquest.com/docview/2540115700
https://search.proquest.com/docview/2458038830
https://pubmed.ncbi.nlm.nih.gov/PMC8096868
Volume 44
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